Canonical Allele Identifier: CA1750654962

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200534_147200535delinsAC , CM000669.2:g.147200534_147200535delinsAC	GRCh38
NC_000007.13:g.146897626_146897627delinsAC , CM000669.1:g.146897626_146897627delinsAC	GRCh37
NC_000007.12:g.146528559_146528560delinsAC	NCBI36
NG_007092.2:g.1089174_1089175delinsAC
NG_007092.3:g.1089534_1089535delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+68025_1348+68026delinsAC MANE Select	ENSP00000354778.3:n.1348+68025_1348+68026delinsAC
ENST00000636870.1:n.1210+68025_1210+68026delinsAC
ENST00000637694.1:n.1251+68025_1251+68026delinsAC
ENST00000637825.1:n.831+68025_831+68026delinsAC
ENST00000638117.1:n.1251+68025_1251+68026delinsAC
ENST00000361727.7:c.1348+68025_1348+68026delinsAC	ENSP00000354778.3:n.1348+68025_1348+68026delinsAC
NM_014141.5:c.1348+68025_1348+68026delinsAC	NP_054860.1:n.1348+68025_1348+68026delinsAC
XM_017011950.2:c.1348+68025_1348+68026delinsAC	XP_016867439.1:n.1348+68025_1348+68026delinsAC
NM_014141.6:c.1348+68025_1348+68026delinsAC MANE Select	NP_054860.1:n.1348+68025_1348+68026delinsAC